New Parents

Welcome to the Chromosome 18 family! As new parents embarking on this journey, you are not alone. You’ve joined a compassionate network dedicated to advocacy, support, and research for those affected by chromosome 18 abnormalities. Our Registry is a robust community where you can connect with others through shared experiences, while our Research Center provides cutting-edge medical insights. With educational resources, virtual tours, personalized care guides, and engaging events, we’re here to empower you with knowledge and support every step of the way. Welcome aboard, and let’s make every moment count together.

Frequently Asked Questions

What is the Registry?

The Chromosome 18 Registry & Research Society is a 501(c)(3) nonprofit advocacy organization composed primarily of the parents of individuals with a chromosome 18 abnormality. We support families through events, advocacy, education and connection.

What is the Research Center?

The Chromosome 18 Clinical Research Center is the only institution in the world dedicated to the study of chromosome 18 conditions and is based at UT Health in San Antonio, Texas. The Research Center is dedicated to empowering individuals and families affected by chromosome 18 abnormalities by providing comprehensive medical and educational information, and treatment options, Clinical Management Guides, peer-reviewed studies, and collaborating experts from a variety of medical and research specialties to enhance the quality of life for affected individuals and their families. Led by Dr. Jannine Cody, the research center has to date enrolled over 700 individuals affected by chromosome 18 conditions in the 30+-year longitudinal research study.

What is the difference between the Registry & the Research Center?

The Chromosome 18 Registry is a 501(c)(3) non-profit organization. The Registry is the primary funder for the Chromosome 18 Clinical Research Center, and organizes community events, both in-person and virtual, connects families to one another and to the research, and brings connection and educational programming to families around the world. The Chromosome 18 Clinical Research Center (“CRC”) is a research institution located at UT Health, San Antonio that conducts the genetic research to help us learn more about chromosome 18 conditions. It is the only research institution in the world dedicated to the study of these conditions. The Registry & the Research Center are two separate entities. Becoming a member of the Registry takes just a few minutes and is free to anyone interested in being connected to the Chromosome 18 community. Joining the Registry means you will be given access to private Facebook groups that are syndrome and region-specific, and be kept up to date on all the Registry in-person and virtual events. Joining the research study at the Clinical Research Center, however, is reserved only for those affected by chromosome 18 conditions and their immediate family members and is a much more involved process that involves blood samples, medical records, etc. If you are interested in joining the research study, please reach out to mccarthyc@uthscsa.edu.

The Chromosome 18 Registry & Research Society

What you will expect when you join as a member

Welcome email
Outreach from the registry’s, program coordinator
Connect right away with syndrome and regional coordinators
Monthly email updates for C18 research, newsletter and events
Help and support from C18 program coordinator and staff
Connection to our VP of member relations
Access to private Facebook pages
Access to virtual events

What is a regional and syndrome coordinator?

Coordinator positions are filled by individuals who have volunteered to connect you with resources and events in your area or about your syndrome. They are parent volunteers who will help you to the best of their abilities.

Events Overview

Every month, Chromosome 18 hosts at least 3 virtual events for our families that are a part of the registry. They are on zoom and completely free! Topics can range from medical, educational, connection events or social events!

Learn more from our Events Calendar that is updated frequently with new events.

New member calls

Four times a year, we host new member calls for families who have joined the Registry recently. This call is over zoom, free and a great way to connect to key people in the registry right away. This call is a great place to ask questions and connect with other new families

Facebook groups list:

C18 Registry Great Lakes Regional Group

C18 Registry Great Plains Regional Group

C18 Registry Mid-Atlantic Regional Group

C18 Registry Northeast Regional Group

C18 Registry Northwest Regional Group

C18 Registry Rocky Mountain Regional group

C18 Registry South Central Regional Group

C18 Registry Southeast Regional Group

Chromosome 18 Southwest Region

C18 Registry Texas Area Regional Group

Canadian Chromosome 18

How do I join events?

Every month, Chromosome 18 hosts several virtual events to give support to our families. To join, check out the C18 events page, click on the event you are interested in and you can register over zoom. All of our virtual events are free to our families.

What is the annual conference?

Interested in coming to conference for the first time? Check out our FAQ’s for our first time families!

Where do I get medical and doctor recommendations for my area?

–Regional Facebook pages. Check out all of the Facebook groups here: https://www.facebook.com/chromosome18Registry

–Reach out to your coordinator from your welcome email

–Private Facebook page is a great place to ask questions to other C18 families. Your posts can also be completely anonymous if you want!

The Chromosome 18 Clinical Research Center

How do I enroll in the research study?

Fill out and submit response form
The Participant Coordinator (Catherine McCarthy) will then contact you to answer questions and provide the specifics of enrollment
Complete the informed consent process
Send medical records including the diagnostic laboratory report that found a chromosome 18 abnormality
Send blood from the affected person and their biological parents (when available) in the blood kit provided by the study for genetic analysis

Visit https://wp.uthscsa.edu/chrome-18/enrollment/ to learn more!

Clinical Management guides

The Clinical Management Guides are focused on understanding and improving the lives of people with Chromosome 18 abnormalities and reorganized these data into a format that would be more usable for the clinicians who manage the care of these individuals. The management guides are divided into 3 major parts:

A 60 second summary for those who just need a brief overview
The actual Management Guide which begins with a table of contents-type summary
Instructions for creating a personalized management guide based on an individual patient’s unique chromosome 18 change

Find the Clinical Management Guides Here: https://wp.uthscsa.edu/chrome-18/resources/clinical-management-guides/

Clinical Research Center tour

Every quarter Chromosome 18 holds a virtual tour of the Clinical Research Center, over zoom, for anyone around the world to join in. This tour is led by Dr. Cody, she shows us the lab where they do research and at the end of the tour you are able to ask your questions directly to Dr. Cody.

Learn more about our virtual events here: https://www.chromosome18.org/events